Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked

Preferred Label : Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked;

Symbol : IPEX;

CISMeF acronym : DMSD; IPEX; XLAAD; XPID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : X-linked autoimmunity-allergic dysregulation syndrome; Iddm-secretory diarrhea syndrome; Autoimmunity-immunodeficiency syndrome, X-linked; Diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked; Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy; Polyendocrinopathy, immune dysfunction, and diarrhea, X-linked; Diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea; Immunodeficiency, polyendocrinopathy, and enteropathy, X-linked; XLAAD; DMSD; XPID;

Included titles and symbols : Islets of langerhans, absence of;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the forkhead box P3 gene (FOXP3, 300292.0001);

Prefixed ID : #304790;

Details

Origin ID

304790;

UMLS CUI

C0342288;

Automatic exact mappings (from CISMeF team)
- FOXP3 wt Allele [NCIt concept]
- Forkhead Box Protein P3 Measurement [NCIt concept]
- forkhead box P3 [ORDO Gene]
Currated CISMeF NLP mapping
- IPEX syndrome [MedDRA Preferred Term]
- Immune Dysregulation, Polyendocrinopathy, and Enteropathy X-Linked Syndrome [NCIt concept]
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome [ORDO Disease]
- Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome [MedDRA LLT]
- Immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome [PASCAL descriptor]
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome (disorder) [SNOMED CT concept]
- X-linked immune dysregulation – polyendocrinopathy – enteropathy [ICD-11 More detail]
- X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) [SNOMED CT concept]
- immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome [MeSH concept]
- immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome [MeSH Supplementary Concept]
- immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome [DO Concept]
DO Cross reference
- immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome [DO Concept]
Genes related to phenotype
- Forkhead box p3 [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Anemia [HPO term]
- Anti-glutamic acid decarboxylase antibody positivity [HPO term]
- Arthritis [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Chronic diarrhea [HPO term]
- Coombs-positive hemolytic anemia [HPO term]
- Eczema [HPO term]
- Enteropathy [HPO term]
- Eosinophilia [HPO term]
- Erythroderma [HPO term]
- Failure to thrive [HPO term]
- Food allergy [HPO term]
- Global developmental delay [HPO term]
- Glomerulonephritis [HPO term]
- Hepatitis [HPO term]
- Hypothyroidism [HPO term]
- Ileus [HPO term]
- Immune dysregulation [HPO term]
- Increased circulating IgE level [HPO term]
- Lymphadenopathy [HPO term]
- Neutropenia [HPO term]
- Seizure [HPO term]
- Severe infection [HPO term]
- Thrombocytopenia [HPO term]
- Type I diabetes mellitus [HPO term]
- Ventriculomegaly [HPO term]
- Villous atrophy [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- IPEX syndrome [MedDRA Preferred Term]
- Immune Dysregulation, Polyendocrinopathy, and Enteropathy X-Linked Syndrome [NCIt concept]
- Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome [ORDO Disease]
- Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome [MedDRA LLT]
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome (disorder) [SNOMED CT concept]
- X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome (disorder) [SNOMED CT concept]
- immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome [MeSH Supplementary Concept]
- immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome [DO Concept]

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